Prenatal presentation of pyruvate dehydrogenase complex deficiency
Niranjana Natarajan1, Hannah M Tully1, Teresa Chapman2
1Department of Pediatrics, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA, USA.
Pediatric Radiology
|March 31, 2016
Summary
Pyruvate dehydrogenase complex deficiency can cause fetal ventriculomegaly, a condition often mistaken for aqueductal stenosis. Early diagnosis through imaging and genetic studies is crucial for timely treatment and improved outcomes in infants.
Area of Science:
- Neurology
- Metabolic Disorders
- Medical Imaging
Background:
- Ventriculomegaly is a frequent indication for prenatal magnetic resonance (MR) imaging.
- Inborn errors of metabolism are rarely considered in the differential diagnosis of fetal ventriculomegaly.
- Pyruvate dehydrogenase complex (PDHC) deficiency is a rare genetic disorder affecting brain metabolism.
Observation:
- Prenatal MR revealed ventriculomegaly, cerebral volume loss, and white matter abnormalities in a female infant.
- Postnatal clinical course included persistent lactic acidosis.
- Metabolic and molecular genetic studies confirmed PDHC deficiency.
Findings:
- This case details the pre- and postnatal MR imaging features associated with PDHC deficiency.
- The findings highlight the characteristic cerebral volume loss and white matter abnormalities in PDHC deficiency.
- The study correlates imaging findings with clinical presentation and biochemical/genetic confirmation.
Implications:
- PDHC deficiency should be considered in the differential diagnosis of fetal ventriculomegaly.
- Recognizing the imaging features of metabolic disorders can lead to earlier diagnosis.
- Prompt diagnosis of PDHC deficiency allows for early intervention, potentially improving neurological outcomes.
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